Feasibility of prenatal diagnosis of β thalassaemia by DNA polymorphisms in an Italian population

J. S. Wainscoat, S. Work, M. Sampietro, M. D. Cappellini, G. Fiorelli, S. Terzoli, D. J. Weatherall

Research output: Contribution to journalArticlepeer-review

Abstract

A feasibility study of prenatal diagnosis of β thalassaemia in a northern Italian population has been carried out. Twenty-five families have been studied, each consisting of two parents and a homozygous β thalassaemia child, thus enabling linkage analysis of restriction fragment length polymorphisms (RFLPs) to the normal and the thalassaemic chromosomes. Using seven standard RFLPs, 19/25 families could be offered prenatal diagnosis; inclusion of the recently described Ava IIψβ polymorphism increased this figure to 23/25 (92%) of the families.

Original languageEnglish
Pages (from-to)495-500
Number of pages6
JournalBritish Journal of Haematology
Volume62
Issue number3
Publication statusPublished - 1986

ASJC Scopus subject areas

  • Hematology

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